ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.1018G>T (p.Glu340Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003051281 SCV003449928 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2022-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the WNT10A protein in which other variant(s) (p.Glu390*) have been determined to be pathogenic (PMID: 24902757). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with clinical features of odontoonychodermal dysplasia (PMID: 28105635). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu340*) in the WNT10A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acid(s) of the WNT10A protein.

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